| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94000866C>T | CA227408 | ABCA4 | c.6449G>A (p.Cys2150Tyr) c.2825G>A (p.Cys942Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94000866C= | CA1140725951 | ABCA4 | c.6449G= (p.Cys2150=) c.2825G= (p.Cys942=) | dbSNP |
| 1 | g.94000866C>G | CA341277286 | ABCA4 | c.6449G>C (p.Cys2150Ser) c.2825G>C (p.Cys942Ser) | dbSNP |